Canonical Allele Identifier: CA7206380

Gene: KIAA0586

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58512571C>G , CM000676.2:g.58512571C>G	GRCh38
NC_000014.8:g.58979289C>G , CM000676.1:g.58979289C>G	GRCh37
NC_000014.7:g.58049042C>G	NCBI36
NG_051335.2:g.90187C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001329943.3:c.4373C>G MANE Select	NP_001316872.1:p.Ser1458Ter
ENST00000652326.2:c.4373C>G MANE Select	ENSP00000498929.1:p.Ser1458Ter
NM_001244189.1:c.4532C>G	NP_001231118.1:p.Ser1511Ter
NM_001244189.2:c.4532C>G	NP_001231118.1:p.Ser1511Ter
NM_001244190.1:c.4328C>G	NP_001231119.1:p.Ser1443Ter
NM_001244190.2:c.4328C>G	NP_001231119.1:p.Ser1443Ter
NM_001244191.1:c.4118C>G	NP_001231120.1:p.Ser1373Ter
NM_001244191.2:c.4118C>G	NP_001231120.1:p.Ser1373Ter
NM_001244192.1:c.4241C>G	NP_001231121.1:p.Ser1414Ter
NM_001244192.2:c.4241C>G	NP_001231121.1:p.Ser1414Ter
NM_001244193.1:c.3953C>G	NP_001231122.1:p.Ser1318Ter
NM_001244193.2:c.3953C>G	NP_001231122.1:p.Ser1318Ter
NM_001329943.2:c.4373C>G	NP_001316872.1:p.Ser1458Ter
NM_001329944.1:c.4373C>G	NP_001316873.1:p.Ser1458Ter
NM_001329944.2:c.4373C>G	NP_001316873.1:p.Ser1458Ter
NM_001329945.1:c.4118C>G	NP_001316874.1:p.Ser1373Ter
NM_001329945.2:c.4118C>G	NP_001316874.1:p.Ser1373Ter
NM_001329946.1:c.4373C>G	NP_001316875.1:p.Ser1458Ter
NM_001329946.2:c.4373C>G	NP_001316875.1:p.Ser1458Ter
NM_001329947.1:c.4241C>G	NP_001316876.1:p.Ser1414Ter
NM_001329947.2:c.4241C>G	NP_001316876.1:p.Ser1414Ter
NM_001364700.1:c.4118C>G	NP_001351629.1:p.Ser1373Ter
NM_001364701.1:c.4118C>G	NP_001351630.1:p.Ser1373Ter
NM_001364701.2:c.4118C>G	NP_001351630.1:p.Ser1373Ter
NM_014749.3:c.4145C>G	NP_055564.3:p.Ser1382Ter
NM_014749.4:c.4145C>G	NP_055564.3:p.Ser1382Ter
NM_014749.5:c.4145C>G	NP_055564.3:p.Ser1382Ter
ENST00000261244.9:c.4145C>G	ENSP00000261244.5:p.Ser1382Ter
ENST00000354386.10:c.4532C>G	ENSP00000346359.6:p.Ser1511Ter
ENST00000423743.7:c.4241C>G	ENSP00000399427.3:p.Ser1414Ter
ENST00000538571.6:n.3963C>G
ENST00000555397.1:c.419C>G	ENSP00000451356.1:p.Ser140Ter
ENST00000556134.5:c.4241C>G	ENSP00000452351.2:p.Ser1414Ter
ENST00000557392.1:n.189C>G
ENST00000619416.4:c.4328C>G	ENSP00000478083.1:p.Ser1443Ter
ENST00000619722.4:c.4118C>G	ENSP00000481936.1:p.Ser1373Ter
ENST00000619722.5:c.4118C>G	ENSP00000481936.1:p.Ser1373Ter
ENST00000650845.1:n.4838C>G
ENST00000650904.1:c.4292C>G	ENSP00000498606.1:p.Ser1431Ter
ENST00000651759.1:c.3423C>G	ENSP00000498415.1:n.3423C>G
ENST00000651852.1:c.1892C>G	ENSP00000498990.1:p.Ser631Ter
ENST00000651937.1:c.*2708C>G	ENSP00000498785.1:n.*2708C>G
ENST00000652414.1:c.2477C>G	ENSP00000498397.1:p.Ser826Ter
ENST00000652732.1:c.*3858C>G	ENSP00000498799.1:n.*3858C>G
XM_024449779.1:c.4496C>G	XP_024305547.1:p.Ser1499Ter
XM_024449780.1:c.4397C>G	XP_024305548.1:p.Ser1466Ter
XM_024449781.1:c.4496C>G	XP_024305549.1:p.Ser1499Ter
XM_024449782.1:c.4142C>G	XP_024305550.1:p.Ser1381Ter
XM_024449783.1:c.4142C>G	XP_024305551.1:p.Ser1381Ter
XM_024449784.1:c.4142C>G	XP_024305552.1:p.Ser1381Ter
XM_024449785.1:c.4118C>G	XP_024305553.1:p.Ser1373Ter
XM_024449787.1:c.3977C>G	XP_024305555.1:p.Ser1326Ter
XM_024449788.1:c.3953C>G	XP_024305556.1:p.Ser1318Ter
XM_024449789.1:c.3953C>G	XP_024305557.1:p.Ser1318Ter
XM_024449791.1:c.4397C>G	XP_024305559.1:p.Ser1466Ter